Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome

Area of Science:

• Medical Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Hirschsprung disease is a congenital disorder characterized by the absence of ganglion cells in the distal colon.
• Syndromic forms of Hirschsprung disease often involve multiple congenital anomalies.

Observation:

• A familial aggregation of Hirschsprung disease was observed in siblings from consanguineous parents.
• The affected siblings presented with a distinct constellation of anomalies: polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness.

Findings:

• The co-occurrence of these specific anomalies in multiple siblings suggests a shared genetic etiology.
• The pattern of inheritance within the family is consistent with an autosomal recessive mode.

Implications:

• This association may represent a previously unrecognized autosomal recessive syndrome.
• Further genetic investigation is warranted to identify the causative gene(s) and understand the underlying pathogenic mechanisms.
• Recognition of this syndrome can aid in genetic counseling and diagnostic approaches for families with similar presentations.